The story of Michelle
19 years ago my firstborn son was born. The Dr heard a murmur so we saw a cardigogist and discovered he had a hole in his heart called a VSD and a bicuspid aortic valve (which his dad also had). We went for annual checkups over the following 10 years, and I had 3 more kids. My husband at the time had been passing out occasionally since I met him and then went into chronic atrial fibrillation in 2007. My son started showing heartblock on his ECG so he wore a 24 hr holter monitor which showed 1st and 2nd degree heart block. The cardiologist decided to do a DNA test because of father and sons similar issues. The test came back worse then I could imagine- my son and 2 of my daughters as well as my kids father all had a rare gene mutation called NKX2.5 aka Tinman. It causes various issues like holes in the heart and progressive AV heartblock until at some point the effective person starts passing out due to long pauses in the heart rhythm. My ex had been passing out for years and at one point around 9 years ago passed out while on a monitor for 20 seconds. He got a pacemaker the next day. Then 7 years ago my son (then 12 yr old) started passing out so he got his pacemaker. Recently my 17 yr old daughter had a small monitor implanted under her breast near her heart and it shows she is having 5-10 second flatline episodes when she gets sick and she passes out so the cardiologist recommends she gets her pacemaker soon. My almost 10 yr old has a small hole in her heart and heartblock but not passing out yet so we watch her yearly with monitors. This mutation is hereditary so there is a 50% chance my kids children will get it also. It’s a very scary thing to know others with this mutation have had cardiac arrests and didn’t survive. Even with pacemakers functioning several people with this mutation have had a sudden cardiac death, so I worry often and wonder if we should upgrade my kids to implanted defibrillator’s soon.
Our cardiologists have been wonderful over the years and truly care for my family. I know my kids are in the very best hands at UW Madison WI
Michelle